hrp0092p1-27 | Diabetes and Insulin | ESPE2019

A Case of Neonatal Diabetes with Hyperferritinemia: A Distal PTF1A Enhancer Mutation

Arslan Gülçin , ACAR Sezer , Nalbantoglu Özlem , Köprülü Özge , Özkaya Beyhan , De Franco Elisa , Ellard Sian , Özkan Behzat

Introduction: Neonatal diabetes, defined as the onset of diabetes within the first six months of life, is very rare disease. Several genetic factors caused to neonatal disease have been identified to date. PTF1A (pancreatic transcription factor 1a) play a key role in early pancreas development and cerebellar neurogenesis. Biallelic mutations in PTF1A have been reported in patients with pancreatic and cerebellar agenesis, whereas mutations loc...

hrp0092p2-12 | Adrenals and HPA Axis | ESPE2019

A Case of X-linked Adrenoleukodystrophy Presenting with Primary Adrenal Insufficiency and Normal VLCFA

Özkaya Beyhan , Acar Sezer , Özdemir Taha R. , Nalbantoglu Özlem , Köprülü Özge , Arslan Gülçin , Kutbay Yasar B. , Özkan Behzat

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a rare autosomal recessive neurodegenerative disease caused by a mutation in the ABCD1 gene. Although its clinical presentation varies, X-ALD is generally characterized by progressive demyelination of the central nervous system, primer adrenal insufficiency, and elevated plasma very long-chain fatty acid (VLCFA) levels. Herein, we aimed to present a case of X-ALD with normal VLCFA caused by a path...

hrp0092p3-19 | Adrenals and HPA Axis | ESPE2019

A Case with Central Adrenal Insufficiency and Early Onset Obesity: Proopiomelanocortin Deficiency

Acar Sezer , Nalbantoşlu Özlem , Koç Altuş , Köprülü Özge , Arslan Gülçin , Özkaya Beyhan , Murat Erdoşan Kadri , Özkan Behzat

Introduction: Proopiomelanocortin (POMC) deficiency is a rare disease characterized by central adrenal insufficiency, early-onset obesity, red hair, and impaired skin pigmentation. This disease is caused by mutations of POMC that is localized in 2p23.3. Here, we aimed to present a case with central adrenal insufficiency, red hair, and rapid weight gain and who was detected frameshift mutation in the POMC.Case</s...

hrp0092p3-233 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Early Embryonic Testicular Regression Syndrome Presenting with Female External Genitalia

Acar Sezer , Nalbantoğlu Özlem , Evciler Hüseyin , Köprülü Özge , Arslan Gülçin , Özkaya Beyhan , Ergin Malik , Özkan Behzat

Introduction: Testicular regression syndrome (TRS) is a rare disease characterized by testicular dysfunction that causes varying degrees of virilization defect according to the emergence period in fetal life. The majority of cases present with normal male external genitalia. However, ambigious genitalia or, more rarely, female external genitalia can be found depending on the extent and timing of the intrauterine accident. Here, we present a case of TRS with no...

hrp0089p1-p176 | Growth &amp; Syndromes P1 | ESPE2018

Growth Plate Disorders are the Main Cause of Severe Familiar Short Stature in Children Classified and Treated with Growth Hormone as SGA or GHD

Plachy Lukaš , Strakova Veronika , Elblova Lenka , Dušatkova Petra , Obermannova Barbora , Šnajderova Marta , Kolouškova Stanislava , Zemkova Dana , Šumnik Zdeněk , Lebl Jan , Průhova Štěpanka

Introduction: Familiar short stature (FSS) is a common variant of growth with heterogeneous etiology. Children with FSS are often excluded from further check-up and treatment. However, significant number of children with FSS comply even with the European criteria for growth hormone (GH) therapy – patients with SHOX-deficiency, growth hormone deficiency (GHD) or these born short for gestational age (SGA). The aim of the study was to identify genetic etiology of short statu...

hrp0094p2-309 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Early-onset growth hormone treatment in Prader-Willi syndrome attenuates the risk of transition to severe obesity

Kodytkova Aneta , El Lababidi Eva , Čermakova Ivana , Černa Jana , Čižek Jindřich , Dvořakova Marcela , Kalvachova Božena , Magnova Olga , Neumann David , Novotna Dana , Obermannova Barbora , Plašilova Ivana , Pomahačova Renata , Průhova Štěpanka , Strnadel Jiři , Škvor Jaroslav , Šnajderova Marta , Šumnik Zdeněk , Zapletalova Jiřina , Kusalova Kateřina , Šilar Jiři , Kolouškova Stanislava , Zemkova Daniela , Lebl Jan ,

Background: Following a phase of feeding difficulties and underweight in early life, children with Prader-Willi syndrome (PWS) develop hyperphagia and a tendency towards severe obesity. Growth hormone therapy (GH) has been approved in PWS to compensate their growth failure but may exert also additional effects on muscle component and body composition as well.Objectives: We aimed to test if an early initiation of GH thera...